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Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene, is the most commonly inherited cause of developmental disability. Fragile X syndrome occurs relatively equally in all racial and ethnic groups and is one of the few disorders affecting child behavior for which the exact gene is identified. Furthermore, from infancy, both males and females with this syndrome are predisposed for manifesting characteristic cognitive, emotional, and behavioral challenges. The purpose of this article is to illuminate the multisystemic and multifaceted phenotype of the FMR1 gene mutation by means of the parent response Biopsychosocial Screening Inventory for Fragile X, for which preliminary studies show promise.  相似文献   
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BACKGROUND: The administration of blood components from donors who subsequently develop Creutzfeldt-Jakob disease has raised the issue of blood as a possible vehicle for iatrogenic disease. STUDY DESIGN AND METHODS: We examined infectivity in blood components and Cohn plasma fractions in normal human blood that had been "spiked" with trypsinized cells from a scrapie-infected hamster brain, and in blood of clinically ill mice that had been inoculated with a mouse-adapted strain of human transmissible spongiform encephalopathy. Infectivity was assayed by intracerebral inoculation of the blood specimens into healthy animals. RESULTS: Most of the infectivity in spiked human blood was associated with cellular blood components; the smaller amount present in plasma, when fractionated, was found mainly in cryoprecipitate (the source of factor VIII) and fraction I+II+III (the source of fibrinogen and immunoglobulin); almost none was recovered in fraction IV (the source of vitamin-K-dependent proteins) and fraction V (the source of albumin). Mice infected with the human strain of spongiform encephalopathy had very low levels of endogenous infectivity in buffy coat, plasma, cryoprecipitate, and fraction I+II+III, and no detectable infectivity in fractions IV or V. CONCLUSION: Convergent results from exogenous spiking and endogenous infectivity experiments, in which decreasing levels of infectivity occurred in cellular blood components, plasma, and plasma fractions, suggest a potential but minimal risk of acquiring Creutzfeldt-Jakob disease from the administration of human plasma protein concentrates.  相似文献   
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Currently, no national database for academic nurse-managed centers (ANMCs) exists. These primary care services remain somewhat invisible in the policy and reimbursement areas of the American primary care system and, consequently, are undersupported. The purpose of this article is to describe client and service data from a national study of ANMCs. A cross-sectional survey design was used to collect data from ANMC directors. Usable data were received from 64 centers. ANMCs in the sample were relatively small in terms of patients and volume. Client and service profiles demonstrated variation, which seemed to be reflective of needs relative to populations and communities served. Nearly half of the ANMCs responding served clients of all ages, with services representing the breadth of primary care (i.e., health maintenance and management of minor acute and common chronic illnesses). Evidence of community-focused care was also noted. The reported use of standardized nursing language was low. Standardized medical taxonomies were more commonly used, with International Classification of Diseases, Ninth Revision being the most common. ANMCs provide a small but substantial amount of primary care services in communities served. Findings indicated a need for ANMCs to improve the documentation of their contributions through the use of standardized taxonomies to provide aggregated reporting for policy and research purposes.  相似文献   
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PURPOSE: To provide a means for calculating the cost of nursing care using the Clinical Care Classification System (CCCS). DATA SOURCES: Three CCCS indicators of care components, actions, and outcomes in conjunction with Clinical Care Pathways (CCPs). DATA SYNTHESIS: The cost of patient care is based on the type of action time multiplied by care components and nursing costs. CONCLUSIONS: The CCCM for the CCCS makes it possible to measure and cost out clinical practice. IMPLICATIONS FOR PRACTICE: The CCCM may be used with CCPs in the electronic patient medical record. The CCPs make it easy to track the clinical nursing care across time, settings, population groups, and geographical locations. Collected data may be used many times, allowing for improved documentation, analysis, and costing out of care.  相似文献   
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